Myology research highlights

Genetic defects in calpain3 (CAPN3) leads to Limb-Girdle Muscular Dystrophy type 2A (LGMD2A), a disease of the skeletal muscle that affects predominantly the proximal limb muscles. The authors of this study have previously demonstrated the potential of Adeno-Associated Virus (AAV)-mediated transfer of the CAPN3 gene to correct the pathological signs in a murine model for … [Read more]

In this retrospective study that took place over the last 30 years, the life expectancy in patients suffering from Duchenne muscular dystrophy (DMD) was investigated by analysing the role of ventilatory assistance and causes of death. One hundred and nineteen adult DMD patients were followed from 1981 to 2011 at the AFM Yolaine de Kepper … [Read more]

A comprehensive study of the costs associated with amyotrophic lateral sclerosis (ALS), Duchenne muscular dystrophy (DMD) and myotonic dystrophy (DM) in the U.S was conducted. The total impact on the U.S. economy, including direct medical costs, non-medical costs, and loss of income was determined. Medical costs were calculated using a commercial insurance database and Medicare … [Read more]

Type II glycogenosis (GSDII) is a rare and often fatal neuromuscular disorder caused by acid alpha-glucosidase deficiency. Although alglucosidase alfa enzyme replacement therapy (ERT) significantly improves outcomes in subjects with the infantile form, its efficacy in patients with the late-onset one is not entirely clear. The long-term efficacy of ERT in late-onset GSDII complicated by … [Read more]

The role of plasmapheresis before thymectomy remains controversial. The aim of this study is to determine the peri-operative and post-operative outcome of a thymectomy between performing and not performing a pre-operative plasmapheresis. A retrospective chart review study was conducted in Chiang Mai University Hospital between January 2006 and December 2011. There were 86 myasthenia patients … [Read more]

Oculopharyngeal muscular dystrophy (OPMD) is a late onset autosomal dominant genetic disease mainly characterized by ptosis and dysphagia. The authors conducted a Phase I/IIa clinical study (ClinicalTrials.gov NCT00773227) using autologous myoblast transplantation following myotomy in adult OPMD patients. This study included 12 patients with clinical diagnosis of OPMD, indication for cricopharyngeal myotomy, and confirmed genetic … [Read more]

Facioscapulohumeral muscular dystrophy is a dominantly inherited myopathy associated with chromatin relaxation of the D4Z4 macrosatellite array on chromosome 4. DUX4 is encoded within each unit of the D4Z4 array where it is normally transcriptionally silenced and packaged as constitutive heterochromatin. Truncation of the array to less than 11 D4Z4 units (FSHD1) or mutations in … [Read more]

Duchenne muscular dystrophy (DMD) causes progressive respiratory muscle weakness. The aim of this retrospective study was to analyse the trend of a large number of respiratory parameters to gain further information on the course of the disease. Forty-eight boys with DMD (age range 6-19 years old were followed in a multidisciplinary neuromuscular clinic between 2001 … [Read more]

Becker’s Muscular Dystrophy (BMD) is a dystrophinopathy manifested as progressive muscle degeneration. Autologous Bone Marrow Mononuclear Cells (BMMNCs) have shown some myogenic potential. The paracrine effects of the BMMNCs reduce the inflammation and are thought to reduce muscle degeneration. In this study, a 39 year old dental surgeon suffering from BMD was treated. Muscle strength … [Read more]

RNA-based therapeutic approaches using splice-switching oligonucleotides have been successfully applied to rescue dystrophin in Duchenne muscular dystrophy (DMD) preclinical models and are currently being evaluated in DMD patients. Although the modular structure of dystrophin protein tolerates internal deletions, many mutations that affect non-dispensable domains of the protein require further strategies. Among these, trans-splicing technology is … [Read more]